PMID- 10552926
OWN - NLM
STAT- MEDLINE
DCOM- 20000214
LR  - 20091119
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 61
IP  - 3
DP  - 1999 Nov 1
TI  - Characterization of the human and mouse unconventional myosin XV genes
      responsible for hereditary deafness DFNB3 and shaker 2.
PG  - 243-58
AB  - Mutations in myosin XV are responsible for congenital profound deafness DFNB3 in 
      humans and deafness and vestibular defects in shaker 2 mice. By combining direct 
      cDNA analyses with a comparison of 95.2 kb of genomic DNA sequence from human
      chromosome 17p11.2 and 88.4 kb from the homologous region on mouse chromosome 11,
      we have determined the genomic and mRNA structures of the human (MYO15) and mouse
      (Myo15) myosin XV genes. Our results indicate that full-length myosin XV
      transcripts contain 66 exons, are >12 kb in length, and encode 365-kDa proteins
      that are unique among myosins in possessing very long approximately 1200-aa
      N-terminal extensions preceding their conserved motor domains. The tail regions
      of the myosin XV proteins contain two MyTH4 domains, two regions with similarity 
      to the membrane attachment FERM domain, and a putative SH3 domain. Northern and
      dot blot analyses revealed that myosin XV is expressed in the pituitary gland in 
      both humans and mice. Myosin XV transcripts were also observed by in situ
      hybridization within areas corresponding to the sensory epithelia of the cochlea 
      and vestibular systems in the developing mouse inner ear. Immunostaining of adult
      mouse organ of Corti revealed that myosin XV protein is concentrated within the
      cuticular plate and stereocilia of cochlear sensory hair cells. These results
      indicate a likely role for myosin XV in the formation or maintenance of the
      unique actin-rich structures of inner ear sensory hair cells.
CI  - Copyright 1999 Academic Press.
FAU - Liang, Y
AU  - Liang Y
AD  - Laboratory of Molecular Genetics, National Institute on Deafness and Other
      Communication Disorders (NIDCD), National Institutes of Health (NIH), 5 Research 
      Court, Rockville, Maryland, 20850, USA.
FAU - Wang, A
AU  - Wang A
FAU - Belyantseva, I A
AU  - Belyantseva IA
FAU - Anderson, D W
AU  - Anderson DW
FAU - Probst, F J
AU  - Probst FJ
FAU - Barber, T D
AU  - Barber TD
FAU - Miller, W
AU  - Miller W
FAU - Touchman, J W
AU  - Touchman JW
FAU - Jin, L
AU  - Jin L
FAU - Sullivan, S L
AU  - Sullivan SL
FAU - Sellers, J R
AU  - Sellers JR
FAU - Camper, S A
AU  - Camper SA
FAU - Lloyd, R V
AU  - Lloyd RV
FAU - Kachar, B
AU  - Kachar B
FAU - Friedman, T B
AU  - Friedman TB
FAU - Fridell, R A
AU  - Fridell RA
LA  - eng
SI  - GENBANK/AF051976
SI  - GENBANK/AF144093
SI  - GENBANK/AF144094
SI  - GENBANK/AF144095
GR  - CA37231/CA/NCI NIH HHS/United States
GR  - CA42951/CA/NCI NIH HHS/United States
GR  - R01HD30428/HD/NICHD NIH HHS/United States
GR  - etc.
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (DNA, Complementary)
RN  - 0 (MYO15A protein, human)
RN  - 0 (Myo15 protein, mouse)
RN  - 0 (RNA, Messenger)
RN  - EC 3.6.4.1 (Myosins)
SB  - IM
MH  - Alternative Splicing
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Chromosomes, Human, Pair 17/genetics
MH  - Cloning, Molecular
MH  - Cochlea/metabolism
MH  - DNA, Complementary/genetics
MH  - Deafness/*congenital/*genetics
MH  - Humans
MH  - Mice
MH  - Molecular Sequence Data
MH  - Myosins/chemistry/*genetics
MH  - Pituitary Gland/cytology/metabolism
MH  - Polymorphism, Single Nucleotide
MH  - RNA, Messenger/metabolism
MH  - Sequence Analysis, DNA
MH  - Tandem Repeat Sequences
MH  - Tissue Distribution
MH  - Transcription, Genetic
EDAT- 1999/11/24 09:00
MHDA- 2000/02/19 09:00
CRDT- 1999/11/24 09:00
PHST- 1999/11/24 09:00 [pubmed]
PHST- 2000/02/19 09:00 [medline]
PHST- 1999/11/24 09:00 [entrez]
AID - 10.1006/geno.1999.5976 [doi]
AID - S0888-7543(99)95976-1 [pii]
PST - ppublish
SO  - Genomics. 1999 Nov 1;61(3):243-58. doi: 10.1006/geno.1999.5976.